Hi, my son had a microarray over a year ago and I was told he had 4 variants of unknown significance. This week we saw a new geneticist for my son and daughter and when I mentioned I'm curious to find out if my daughter has any of same variants the Dr told me my son actually has a deletion on his 4th chromosome but he couldn't find any disorders to link his issues too. My son is 33months, can't walk without his walker, very limited vocabulary. He has hypotonia, strabismus, short stature. The only reflux issues he had was drinking dairy milk. He has low human growth hormone. His pinky fingers only have one flex crease. His feet are small and flat. Does this sound like anyone else's kids?

Hello, My granddaughter is 5 in April. she has two deletions in Chromosone 4 - 31q and 32q. She didnt crawl until she was 18 months old and didn't walk until she was 2 1/2 and only achieving these milestones with the help of a specialist physio. She is still unable to talk but is saying a few words and sometimes stringing two words together and with the help of a speech therapist using the "prompting" method hopefully will learn to pronounce these words fluently. She understands everything being said to her and is a very happy, peaceful little girl. We have had a lot of eating issues with her and she needs a lot of vitamans and tonics but has had great growth spurts in the last couple of years although still very slight in stature. Her pinky fingers are slightly bent and her feet very flat. The joints in her arms and legs are hyperflexive. She will soon have a special ipad to help her with communicatons but up to date has made herself understood with sign language and the few words she knows. She is going to a Montessori school which is helping her heaps and she loves it.

Hi Nicky, I am the mum of the beautiful little girl mentioned above! I would be happy to answer any questions you may have as I completely understand how alone you can feel in this strange world of rare disorders. The specialist physio my mum was talking about above is called Feldon Krais physic and it is amazing. My Grace wouldn't be were she is today without it. Not only for her Gross motor development but also language. Grace was more hypertonic and we are now wondering if that was caused from a lack of magnesium?? We have been seeing a naturopath/nutritionist since December and the results have been phenomenal. Would be happy to talk more about this with you too. Did your genetisist tell you where exactly the deletion is?? this can tell you a lot about possible things to expect. Have you been onto the Unique website? this also provides information on 4q deletion syndrome If your child has a deletion on chromosom 4 then they have 4q deletion syndrome.

Thank you both for replying. He mentioned the breakpoint in the office and I was shocked that he said he didn't find anything to tie it to and I couldnt remember what he said so the next day I called the genetic counselor and she would only tell me it was on the 4th chromosome and again she made it sound like it wasn't the answer to his issues but after doing my own research it sounds like it is the EXACT reason for his issues. They are running tests on my daughter as well. They have the exact same issues except hers are not as bad as his. I have never head of physio so I will be looking into that as well as the nutritionist. Right now he has PT, speech and vision and since he is about to turn 3 they are going to put him in school next year where they will continue his therapy. I just found the unique website last night and haven't signed up yet. I guess I'm very frustrated with the dr that he doesn't think this is why my son is having issues and that the first geneticist didn't tell us about it. I really hope to pick your brain. My email is nickyberg79@gmail.com

Hi, I have never posted on here before. My little girl is 5 (6 in may) and she has a microdeletion 4q22.1-23 deletion, she is missing about 30 genes. Like your child she is very small in stature around 103cms, very small hands and feet when she started walking we had to get specialised boots to fit her tiny feet. At the moment we are looking into growth hormone but it may not be of benefit as she missing genes for growth. She was an extremely poor feeder when a baby...refused food constantly, had no appetite. She's a little better now she takes enough and I have stopped worrying about her intake. She is 13.5 kgs...her school bag is nearly heavier than her. She had hypotonia as a new born with physio 3 times a day she met her milestones albeit a little behind. I sent her to school at 4 so as to enhance her development. She no longer is part of the early intervention team and is doing well in school, reading books and keeping up academically. She doesn't get any extra assistance and apart from her small stature has no difficulty. I have done a mountain of research on 4q deletions and what I've learnt is that no 2 children are the same even though they may have the same deletions (even within the same family). I found it very hard in the beginning the fear of the unknown but I have realised that to be in the here and now is vital, there is no point in stressing about what might not happen. I think it would be important to find out the exact deletion your child has so as to find out what genes are missing. Also they tested us as appose to our other 3 children and it was found to be a denova deletion (which means a new event) so neither my husband or I I have passed it on. I hope this helps. I don't know where your from but I went to see a Dr. Eugene Strehel in Newcastle UK, who has a special interest in children with 4q deletions and is a wealth of information.

Thanks for sharing! I will definitely find out what the exact deletion is. I have always had a great sense of peace with my children even with their struggles bc they are extremely happy little fighters. I agree living in the here and now helps a lot. We are in Springfield, Missouri USA and the nearest physio is 3 hours away in St. Louis. Our Drs are that far away too. Last week at our appt they entered my husband, myself and 2 children into a study that should provide us a wealth of information...in about a year :/ I know no diagnosis will change our plan of care, except like you said with the possible growth hormone, but in the US it's a lot easier to find assistance programs with a diagnosis. My daughter has depth perception and vision issues and without a diagnosis I can't get her into early childhood. It's all very frustrating. If you find out more about the GH let me know. That is our next battle too. That's awesome that your daughter is doing so well in school!

Our son is 13 and has a 4q deletion 46 XY der(4) (4;7) (q32.3;q36.3)mat. He is very small for his age. Barely 50 lbs, just under 4 feet tall, and also has Pierre Robin Syndrome on top of the 4 q deletion. He is non-verbal, delayed in all areas but comprehends everything. Eating is our biggest challenge and needs 4-5 cans of Pediasure a day to maintain his weight. He's had 23 misc. surgeries from open heart, double hip, to ear tubes and broncialscopes. Over last 2 years he's met some great milestones of social (everyone at school is his friend) and he acts much like a preteen since we have him in Montessori with regular peers most of the school day. He is only in his special ed room a few hours when he's getting his therapies. Since our son is one of the older kids and we've gone through most everything feel free to ask any questions. I learned from others at one time and now I am glad to be mentoring you younger parents.

It sounds like you have a fighter on your hands, that's awesome. Is your son a very good natured child? It seems that the moms I have talked to have good natured kids which is fantastic and my light at the end of the tunnel. I know I can probably Google this but I would prefer hearing from other moms. I don't know what a Montessori school is. I know one of our churches has a Montessori preschool but that is all I know. What is the difference between that school and a mainstream school?

Our son is extremely good natured. Always happy and always hugging me. That is my win for it all!!! Our public school got a grant to have Montessori classes up to 6th grade. Montessori believes in the philosophy of peers teaching peers learn. The teacher is only there to facilitate and be certain the kids are doing their workplans. The classroom is a lot different as 2-3 grades are in the same classroom and the older children teach the younger reading, spelling, science, etc. Much more independence and life skills which is what our son needs because he would learn nothing sitting at a desk all day. Concerned about next year when he goes to regular middle school but will continue to get special ed and therapy. Google Montessori and read description on Wikipedia if you want to learn more. There is a pretty good description on there.

Thanks for explaining that! I'll check into it!

My son is probably the oldest living person with this syndrome. Camron is 31 and has 4q deletion 31st q long arm. It is a significant deletion and as we were told, the larger the deletion, the more the deficits. Camron was born with several anomalies including cleft lip and palate, flat feet, heart murmur and hand deformities including the pinkie fingers that did not bend. He was given a very poor prognosis and we were basiclly told he wouldn't live to see 2. There was very little they could tell us about Camron because at this time this defect was so rare thay could only find about a paragraph of information in the medical books. As far as I know there is still no name for this particular syndrome. We just refer to it as 4qminus. A lot of info that is now supplied is based on my son's life. He is severely mentally delayed, autistic and is non verbal. He has the comprehension level of about a 3 year old. He can walk. He is very small. He weighs about 85lbs. He is 4'10" tall. He is literally the size of about a 12 year old. His features also look like a 12 year old. No one would ever guess he is 31. He does have some behavior issues but overall is very affectionate and loving. I am always happy to answer any questions. It sounds like your son has a lesser deletion than mine does. Again, if you research the 4q deletion info on this web site, a lot came from my son's history.

Wow, how scary that must have been for you! I'm thankful for you and all the other parents that have been down this road before us. There is such a common thread with our kids being happy and affectionate. I can sit next to Brock and say can I hold you and he will crawl onto my lap. Brock has a very small deletion, so small that 2 geneticists have basically dismissed it as the reason for his global development delay, short stature, hypotonia and eye issues. They keep looking for something else. His is 4q35.2 but the information I have found the last 3 days seems to tell me this is the reason. I just signed up for Unique and they sent me info on deletions 4q31 and beyond. How does Camron communicate? What age did he walk? Brock crawls without his walker.

Camron communicates mostly by gestures or actions. For instance he will go get something out of the cabinet when he wants to eat, open fridge when he wants something to drink. He makes his wishes known. The most frustrating thing is that he cannot tell us when he is in pain or something is wrong. Camo, is what we call him, started walking when he was 6. Before that he scooted around on his behind.

I can understand why that would be frustrating. I'm about to look into the PEC card system. That just made me wonder if they have cards to express pain? Have you tried that system before? I had a service coordination meeting today and it was brought up but I have never talked to anyone who uses the cards.

It is difficult to teach Camo any type of communication system due to his cognitive deficits. He learns most thing by repetitive efforts. It would be hard for him to process learning how to let you know what hurts as there are so many areas he would have to learn. It's kind of hard to explain without you knowing Camron. But yes it is very frustating but we have been dealing with it for 31 yrs and fortunatley he has been very healthy for the most part. I do worry about the future though, as he ages.

Hi Nicky, there are many things about your experience with your son which sound familiar. My son, PH, has just turned ten and was diagnosed three years ago with the break on the long arm at 34.3 to 35.2. He never crawled, didn't sit on his own until he was eighteen months, didn't stand until he was almost two and took his first steps shortly there after. He climbed nothing - not onto a chair... into his bed.. anything until the week before he turned five. Even today he won't go up more than two rungs on a ladder. You cannot pick him up. He hates his feet being off the ground. He also has global hyptonia, which causes us the most problem as it manifests itself most severely in his bowels - he has both mega colon and encopresis - so he is still diapered at ten. The hypotonia also impacts his hands (hard time writing) and his speech (lacks clarity). He has language processing issues, particularly related to reading and writing, but aside from that he is working at grade level or above in all other subjects, especially math and geography. PH began physical therapy at age two and continued it through age of eight. We lucked out two years ago when the local ski hill decided to run a pilot project with a couple of special needs children. PH fell in love with skiing. At first he could only manage a run or two on the bunny hill but by the end of the first season, the improvement to his muscle tone was significant. By the end of the last season he was able to ski the whole hill, except the double black diamonds. His stamina and muscle tone have grown by leaps and bounds. Anyways... am here if you'd like to chat more.